- Head appears large in relation to the trunk.
- Small lower jaw.
- Narrow chest.
- Protuberant abdomen.
- Mutation analysis of the DDST gene identifies the following: point mutations, deletions leading to premature stop codons, substitutions or deletions of amino acids within transmembrane domains, substitutions of amino acids in intracellular or extracellular domains, and presumed mutations lying outside the coding region but causing low mRNA levels.Several mutations of the DDST gene have been reported in patients with type IB (the most severe form), patients with atelosteogenesis type II (an intermediate form), and patients with diastrophic dysplasia (the mildest form).Mutation analysis can be used to ascertain carriers, particularly in consanguineous families. However, biochemical analysis of fibroblast cultures has not been able to distinguish heterozygotes from normal homozygotes.
- Mutation analysis of the COL2A1 gene detects a single base change that has been observed in a patient with achondrogenesis type II in the type II procollagen gene (ie, substitution of serine for glycine in the alpha 1 [II] chain).
According to the research, conducted by Rutgers University, US, coffee could fight both Parkinson's disease and a form of dementia called dementia with Lewy bodies (DLB). For the study, a team of scientists used a mice model including rodents with the risk of...
A new study, performed by the scientists from Aarhus University, Denmark, and the University of Queensland in Brisbane, Australia, discovers that newborn babies with vitamin D deficiency are at higher risk of developing schizophrenia later in life. For the study, the...
It is time for us to find the solution how to deal with extra weight which is coming with Christmas and New Year’s celebrations because 2018 is almost over and 2019 is getting closer. The main aim is obviously staying in shape and today will find an effective way to...read more
We know that moderate exercise strengthens our health and makes us more beautiful. But few know about the importance of doing sports as psychotherapy. And, nevertheless, physical loads can save from depressions, reduce anxiety, relieve from professional burnout,...read more
Factors such as age, gender, physical activity, genetics, medical history, body type, and others directly affect not only the desire to lose weight, but also to follow the right diet. Everything is relative, everything is individual. Nevertheless, there are universal...read more